Results 81 to 90 of about 27,859 (207)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Challenging right ventricular pacing in a patient with transitional atrioventricular septal defect

Romanian Journal of Cardiology
A 56-year-old woman, known in her past medical history with uncorrected atrioventricular septal defect, secondary pulmonary hypertension, and permanent atrial fibrillation, with repeated hospitalizations for congestive heart failure over the years ...
Stoiculescu Flavia-Mihaela, Hădăreanu Diana-Ruxandra, Ungureanu Adrian, Moise Cristiana Gianina, Florescu Cristina, Donoiu Ionuţ   +5 more
doaj   +1 more source

Mono‐dimensional, two‐dimensional and Doppler echocardiographic measurements in healthy Standardbred neonatal foals in the first 5 days of life

Equine Veterinary Journal, Volume 58, Issue 5, Page 1345-1354, September 2026.
Abstract Background Bodyweight, age and breed influence the echocardiographic assessment of foals. There are no echocardiographic studies in Standardbred neonatal foals. Objectives To describe echocardiographic values for selected variables, evaluate intra‐ and inter‐observer variability and assess cardiac changes in the first 5 days of life in healthy
Fernanda Timbó D'el Rey Dantas, Giulia Forni, Gayle Hallowell, Carolina Castagnetti, Laura Menchetti, Giovanni Romito, Aliai Lanci, Jole Mariella, Francesca Freccero   +8 more
wiley   +1 more source

Congenital Heart Diseases: Tetralogy of Fallot, Atrial Septal Defect, and Ventricular Septal Defect

Congenital heart diseases (CHDs) represent structural abnormalities of the heart present at birth. This article provides a comprehensive overview of three common CHDs: Tetralogy of Fallot (TOF), Atrial Septal Defect (ASD), and Ventricular Septal Defect (VSD).
Abdiraimov Isakender, Safeeria Hussain Fiza Mehar, Sunil Sony, Sharafudheen Fiya Fathima   +3 more
openaire   +1 more source

5D Flow MRI Reveals Respiration‐Driven Changes in Blood Flow Energetics in Congenital Heart Disease

Magnetic Resonance in Medicine, Volume 96, Issue 3, Page 1342-1354, September 2026.
ABSTRACT Purpose Hemodynamic monitoring is essential for patients with right‐sided congenital heart disease (CHD). Respiration may have an increased impact on pulmonary flow in these patients that cannot be assessed by standard tools including 4D flow MRI. This study uses 5D flow MRI to assess respiratory‐cycle variations in flow energetics in patients
Thara Nallamothu, Elizabeth K. Weiss, Justin Baraboo, Joshua D. Robinson, Cynthia K. Rigsby, Christopher W. Roy, Matthias Stuber, Michael Markl   +7 more
wiley   +1 more source

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

SAGE Open Medical Case Reports
Atrioventricular canal defects constitute about 3%–5% of total congenital heart defects, with a prevalence of 0.3–0.4/1000 live births. Mitral valve defects are associated with atrioventricular canal (septal) defects in most cases.
Dhanesh Kumar, Amit Chandra, Naresh Trehan, Shital Prakash, Yatin Mehta, Manisha Mishra, Surinder Bazaz, Sanjeev Chandna   +7 more
doaj   +1 more source

Congenital heart disease in pregnancy and severe maternal morbidity: A distributed data network study

Pregnancy, Volume 2, Issue 5, September 2026.
Abstract Introduction Pregnant people with congenital heart disease (CHD) are a growing patient population in obstetrics, yet evidence on the risk for severe maternal morbidity (SMM) has largely been limited to studies that lack specificity for CHD. We conducted this study to demonstrate the utility of distributed data networks for obstetric research ...
Elizabeth B. Sherwin, Benjamin Martin, Xiao Xu, Anna Booman, Alyssa Howren, Kimberlee McKay, Sadaf Kazi, Sean O'Reilly, Katie S. Kolla, Khyzer Aziz, Katherine Bianco, Stephanie A. Leonard   +11 more
wiley   +1 more source

CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT [PDF]

Heart, 1943
openaire   +4 more sources

Familial secundum atrial septal defect with dysrhythmia associated with web neck

The Turkish Journal of Pediatrics, 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç, Birsen Uçar, Ferruh Baş, Ener Cağri Dinleyici, Ersin Sari   +4 more
doaj